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Items: 24

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr11:67799160-70701268
See casesLikely pathogenic
(Feb 24, 2015)
no assertion criteria provided
2.
GRCh37:
Chr11:230616-134938470
ACAT1, ACP2, ACRV1, ACTN3, ADM, GRK2, AP2A2, APLNR, ALDH3B1, ALDH3B2, AMPD3, APBB1, BIRC2, BIRC3, APLP2, APOA1, APOA4, APOC3, ARCN1, RHOG, ARHGAP1, PHOX2A, ARL2, ARNTL, ARRB1, ART1, ASCL2, ATM, FXYD2, BAD, BBS1, CCND1, BDNF, CXCR5, SERPING1, CAPN5, VPS51, MRPL49, ZNHIT2, MPPED2, MYRF, TMEM258, DAGLA, CALCA, CALCB, CAPN1, CARS, CASP1, CASP4, CASP5, CAT, CBL, SERPINH1, CCKBR, CD3D, CD3E, CD3G, CD5, CD6, MS4A1, MS4A3, CD44, CD59, CD81, CD151, CDKN1C, CFL1, CTSC, CHEK1, CHKA, CHRM1, CHRM4, TPP1, CLNS1A, CNGA4, CNTF, COPB1, COX8A, CPT1A, CRY2, CRYAB, CST6, CSTF3, CTNND1, CTSD, CTSW, DDB1, DDB2, DDX6, DDX10, DHCR7, DLAT, DLG2, DPAGT1, DRD2, DRD4, DUSP8, EEF1G, EIF4G2, ELF5, MARK2, CTTN, ESRRA, ETS1, EXT2, F2, FANCF, FAU, MS4A2, FDX1, FEN1, FGF3, FGF4, FKBP2, FLI1, FOLH1, FOLR1, FOLR2, FOLR3, FSHB, FTH1, FUT4, SLC37A4, LRRC32, GAS2, GIF, GNG3, GRIA4, GRIK4, GRM5, GSTP1, GTF2H1, GUCY1A2, H2AFX, HBB, HBD, HBE1, HBG1, HBG2, HMBS, SLC29A2, HPX, HRAS, HSPA8, HSPB2, DNAJC4, HTR3A, IGF2, IGHMBP2, IL10RA, IL18, ILK, INCENP, INS, INPPL1, IRF7, STT3A, CD82, KCNA4, KCNC1, KCNJ1, KCNJ5, KCNJ11, KCNQ1, KRTAP5-9, LDHA, LDHC, FADS1, FADS3, LMO1, LMO2, VWA5A, LRP4, LRP5, LSP1, LTBP3, CAPRIN1, MAP6, MCAM, MDK, MEN1, SCGB2A1, SCGB2A2, MAP3K11, KMT2A, MMP1, MMP3, MMP7, MMP8, MMP10, MMP12, MMP13, MRE11, MTNR1B, MUC2, MUC5AC, MUC6, MYBPC3, MYO7A, MYOD1, NAP1L4, NCAM1, NDUFC2, NDUFS3, NDUFV1, NDUFS8, NELL1, NFRKB, NNMT, NPAT, NRGN, NUCB2, NUMA1, NUP98, OMP, OPCML, SLC22A18, SLC22A18AS, OSBP, OVOL1, P2RX3, P2RY2, P2RY6, PAFAH1B2, PAK1, PAX6, PC, PDE2A, PDE3B, PGA5, PGR, PIK3C2A, PLCB3, POLR2G, POLR2L, POU2AF1, PPP1CA, PPP2R1B, PPP2R5B, PRCP, PRG2, THAP12, PSMA1, PSMC3, PSMD13, PTH, PTPRCAP, PTPRJ, PTS, NECTIN1, PYGM, RAB3IL1, RAB6A, MAP4K2, RAD9A, RAG1, RAG2, RAPSN, RARRES3, RBM4, RCN1, RDX, RELA, DPF2, RNH1, SNORD15A, ROM1, MRPL23, RPL27A, RPLP2, RPS3, RPS6KB2, RPS13, RPS25, RRM1, SAA1, SAA2, SAA4, SC5D, SCN2B, SCN4B, SCT, SDHD, ST3GAL4, SIPA1, SLC1A2, SLC3A2, SLN, SMPD1, SORL1, SPI1, SPTBN2, SRPRA, TRIM21, SSRP1, ST5, ST14, STIM1, STX3, STX5, ABCC8, TAGLN, TAF10, TALDO1, TCN1, TEAD1, TECTA, TH, THRSP, THY1, TSPAN4, TM7SF2, TNNI2, TNNT3, TPH1, TRAF6, TRPC6, TSG101, PHLDA2, TUB, TYR, UCP2, UCP3, SCGB1A1, UPK2, UVRAG, VEGFB, BEST1, WEE1, WNT11, WT1, SF1, ZFPL1, ZNF143, ZBTB16, ZNF195, ZNF202, ZNF214, ZNF215, RASSF7, CSRP3, PDHX, FOSL1, CUL5, PICALM, FZD4, BBOX1, PPFIBP2, PPFIA1, SLC43A1, IFITM1, DGKZ, CHST1, BARX2, API5, MADD, OR6A2, DCHS1, EIF3F, JRKL, CTSF, EED, FADD, BANF1, ZPR1, MTMR2, RPS6KA4, BRSK2, AIP, SYT7, SART1, USP2, SLC6A5, FIBP, PCSK7, HTR3B, ZW10, MTA2, UBE2L6, SNORD29, SNORD31, SNORD30, SNORD28, SNORD27, SNORD26, SNORD25, SNORD22, MMP20, UBE4A, SLC22A6, SLC22A8, NRXN2, LPXN, PEX16, FADS2, MED17, MAPK8IP1, TP53I11, EI24, PITPNM1, RIN1, TESMIN, FEZ1, MICAL2, CTR9, CEP57, ARHGAP32, ATG13, SPCS2, CKAP5, ARHGEF17, GAB2, C2CD2L, TRIM66, FCHSD2, FGF19, CCS, RCE1, NAALAD2, NAALADL1, KCNE3, NR1H3, IL18BP, DPP3, TSPAN32, TSSC4, USH1C, KCNK7, HIPK3, RBM7, PRMT3, MPZL2, RASGRP2, GLYAT, CDK2AP2, TCIRG1, RTN3, MRVI1, TRIM22, PRG3, IFITM3, YAP1, SPON1, RBM14, CDC42EP2, EIF3M, NXF1, DEAF1, KAT5, HYOU1, IPO7, SSSCA1, HTATIP2, IFITM2, DRAP1, TRIM3, TAF6L, ATP5MG, SCGB1D2, SCGB1D1, CELF1, POLD3, OR5I1, STARD10, NEU3, ME3, GPR83, LYVE1, YIF1A, SRSF8, EHD1, C11orf58, STIP1, CLP1, KCNQ1OT1, SF3B2, CCDC85B, B4GAT1, ADAMTS8, PRSS23, PLA2G16, TREH, PKP3, HPS5, PTGDR2, SLCO2B1, RRAS2, CEP164, ZP1, SHANK2, KDM2A, IGSF9B, ENDOD1, SWAP70, EXPH5, ATG2A, PHLDB1, GANAB, FAM168A, DTX4, SIK2, DENND5A, NUP160, NCAPD3, FNBP4, ARHGEF12, RRP8, SIK3, SIRT3, CLCF1, OR52A1, VSIG2, BACE1, FAM89B, SNHG1, ARFIP2, POLA2, TRIM29, RAB38, CADM1, FLRT1, MTCH2, PANX1, FJX1, KIAA1549L, PRDX5, POU2F3, ABTB2, BRMS1, CATSPERZ, CHRDL2, PAMR1, ANAPC15, ZDHHC5, ATL3, TSKU, HINFP, REXO2, C2CD3, TKFC, TENM4, B3GAT3, FBXO3, SERGEF, EHF, OR5L2, PPP1R14B, OR8G2P, OR8B8, OR8G1, OR10A3, TIMM10B, TIMM10, TIMM8B, MYEOV, BSCL2, OR8B2, ELP4, CHORDC1, ACAD8, B3GAT1, DKK3, RBMXL2, RAB30, PGAP2, PRPF19, DCPS, C11orf54, AAMDC, MACROD1, SLC43A3, ZBTB44, THYN1, COMMD9, DDX25, C11orf21, PACSIN3, TRPM5, SAC3D1, SNX15, RHOD, EFEMP2, NOX4, UBQLN3, KCNK4, RNF141, NTM, CDON, UBXN1, APIP, TMX2, GAL, SIDT2, KMT5B, HSD17B12, IGF2-AS, TMEM216, CEND1, COA4, SLC15A3, PHF21A, MS4A4A, WT1-AS, TRAPPC4, PPME1, CABP2, HIKESHI, CWC15, TRMT112, TMEM138, PCF11, MRPL48, CYB5R2, RSF1, SPA17, FXYD6, C11orf24, TRIM34, CDHR5, CNTN5, SIAE, TOLLIP, C11orf71, ZDHHC13, ROBO4, WDR74, SLC35F2, RAB39A, TRIM44, BTG4, NXPE4, SYTL2, ANKRD49, MS4A12, MRPL16, SDHAF2, SSH3, TTC12, TMEM132A, HRASLS2, LAMTOR1, USP47, VPS37C, ANO1, TRIM68, NADSYN1, FAM86C1, NKAPD1, NAT10, CCDC87, PPP6R3, UEVLD, RNF121, LIN7C, ACER3, SLC35C1, TCP11L1, LGR4, PIDD1, ELMOD1, KCNQ1DN, SOX6, CDC42BPG, FOXRED1, OTUB1, AMBRA1, PACS1, KDM4D, KBTBD4, PARVA, TTC17, SCN3B, VPS11, TMEM126B, SLC22A11, TEX12, CRTAM, MMP26, TMPRSS4, AKIP1, C11orf16, TMEM9B, NRIP3, ASCL3, GPR137, IFT46, SMCO4, EMSY, PRDM10, PRDM11, CABP4, CHRNA10, SLC17A6, TRIM49, PNPLA2, CD248, CORO1B, SCYL1, DSCAML1, GRAMD1B, USP35, CEP126, ARHGAP20, CARNS1, SYT13, USP28, PHRF1, LRRC4C, SCUBE2, POLD4, KRTAP5-8, PLEKHB1, MS4A7, ZBED5, CREBZF, CARD18, SIGIRR, CCDC90B, CCDC81, AASDHPPT, ALX4, MRPL17, PKNOX2, FAM111A, TP53AIP1, ANO3, MMP27, ABCG4, ROBO3, MS4A6A, MS4A5, C11orf1, EPS8L2, KLC2, TUT1, MRPL11, TMEM135, STK33, KCTD14, C11orf95, CHID1, LRFN4, AHNAK, ALG8, PRRG4, TMEM223, TMEM109, CCDC86, LBHD1, C11orf49, TRIM48, TAF1D, RNF26, OR51G1, OR51B4, OR51B2, OR52N1, FAM118B, RIC3, DYNC2H1, NLRX1, MSANTD2, C11orf80, NARS2, E2F8, SLC25A22, CCDC82, ALG9, ZNF408, CLMP, NAA40, QSER1, AGBL2, ZBTB3, PDZD3, JHY, CPSF7, PRR5L, CCDC15, ASRGL1, PGGHG, MOGAT2, TMEM134, MUS81, PAAF1, PDGFD, INTS5, ZFP91, TMPRSS5, OR8J3, OR51G2, OR51E2, OR4P4, OR4C15, OR4A5, OR4A16, OR4A15, OR10W1, PTDSS2, MOB2, GDPD5, CLPB, UNC93B1, SBF2, RAB1B, KIF18A, PUS3, MFRP, C11orf68, MS4A8, JAM3, FERMT3, TRPT1, RBM4B, FRMD8, BCO2, TMEM133, TMPRSS13, FAM160A2, RNASEH2C, FAR1, TMEM126A, DCUN1D5, BTBD10, EIF1AD, NUDT22, ARFGAP2, MSANTD4, MAML2, SYVN1, KIRREL3, DGAT2, ACCS, MS4A14, TRIM51, BUD13, TMEM25, PTPN5, RPUSD4, TBRG1, MICALCL, RELT, UBASH3B, C11orf70, LGALS12, TRIM5, TNKS1BP1, DIXDC1, CEP295, ZC3H12C, GAL3ST3, NAV2, ATG16L2, GLB1L2, SYT8, TSPAN18, ESAM, CREB3L1, AP5B1, CCDC34, SLC39A13, DEPDC7, SYT12, ACY3, ALKBH8, FDXACB1, C11orf52, INTS4, GLYATL1, CAVIN3, VPS26B, GLB1L3, CDCA5, SAAL1, SLC22A9, TIRAP, CARD16, OSBPL5, C1QTNF4, C1QTNF5, TMEM123, PTPMT1, LRRC56, BATF2, SLC22A12, PANX3, MRGPRD, APOA5, MRGPRE, MRGPRF, ART5, ARAP1, CATSPER1, MRGPRX2, MRGPRX3, MRGPRX4, HRASLS5, TRIM6, OR52E2, OR52J3, OR51L1, OR51A7, OR51S1, OR51F2, OR52R1, C11orf74, OR4C46, OR4X2, OR4B1, OR52M1, OR52K2, OR5P2, OR5P3, LARGE2, SLC36A4, FAT3, TRIM64, TMEM45B, CYP2R1, DBX1, COLCA2, PIH1D2, NXPE1, NXPE2, JAML, DNAJC24, ARL14EP, OR8I2, OR2D3, OR2D2, OR52W1, OR56A4, OR56A1, SYT9, LDLRAD3, OR52B4, C11orf40, OR52I2, OR51E1, XRRA1, UBQLNL, MUC15, C11orf94, FAM76B, SESN3, PIWIL4, ARHGAP42, KBTBD3, CWF19L2, KDELC2, LAYN, TTC36, SPINDOC, PLEKHA7, SPTY2D1, TMEM86A, OR10A5, OR2AG1, DNHD1, AMOTL1, SLC5A12, DEUP1, PATE1, C11orf65, LDHAL6A, C11orf42, GPHA2, ADAMTS15, NLRP6, B3GNT6, METTL15, MPZL3, IMMP1L, OR56B4, ANO5, OR8U1, OR4C16, OR4C11, OR4S2, OR4C6, OR5D14, OR5L1, OR5D18, OR5AS1, OR8K5, OR5T2, OR8H1, OR8K3, OR8J1, OR5R1, OR5M3, OR5M8, OR5M11, OR5AR1, LRRC55, SMTNL1, YPEL4, MED19, FOLH1B, C11orf45, HYLS1, TMEM218, SLC37A2, OR8B12, OR8G5, OR10G8, OR10G9, OR10S1, OR6T1, OR4D5, TBCEL, TMEM136, MRPL21, TPCN2, SPATA19, OR6Q1, OR9I1, OR9Q1, OR9Q2, OR1S2, OR1S1, OR10Q1, OR5B17, OR5B21, GLYATL2, MPEG1, OR5A2, OR5A1, OR4D6, OR4D11, PATL1, OOSP2, MS4A15, VWCE, CYB561A3, PPP1R32, GDPD4, DDIAS, CCDC83, ORAOV1, LRTOMT, HEPACAM, OAF, TIGD3, FAM181B, CCDC89, LRRN4CL, HNRNPUL2, ALKBH3, MS4A6E, DEFB108B, PELI3, ANGPTL5, EHBP1L1, SNX32, TSGA10IP, RNF169, CNIH2, ZDHHC24, C11orf86, NUDT8, ANKK1, OR52B2, OR4C3, OR4S1, LMNTD2, EML3, TMEM151A, OR51F1, RNF214, SVIP, MRGPRX1, NPAS4, SELENOH, AQP11, OR51B5, OR10AG1, OR5J2, OR4C13, OR4C12, CSNK2A3, OR51V1, TRIM49B, H19, MAJIN, SLC25A45, NEAT1, BCL9L, FOXR1, CCDC153, OR8D1, OR8D2, OR8B4, C11orf44, OR9G4, P4HA3, PGM2L1, KLHL35, KCTD21, CRACR2B, TMEM80, CCDC88B, TTC9C, SLC22A24, RCOR2, HARBI1, LINC00294, IGSF22, OR10A4, OLFML1, NLRP10, NLRP14, ANO9, LUZP2, CCDC84, TMEM225, OR8D4, OR5F1, OR5AP2, ANKRD13D, ANKRD42, B4GALNT4, OR52L1, OR2AG2, OR52B6, OTOG, DCDC1, C11orf53, MS4A10, OR2AT4, HEPHL1, OR10A2, OVCH2, TBX10, GATD1, PLET1, RTN4RL2, GALNT18, NCR3LG1, FAM111B, TMEM179B, TBC1D10C, DNAJB13, MALAT1, MRGPRG, KRTAP5-1, KRTAP5-3, KRTAP5-4, KRTAP5-10, SLC22A25, IFITM5, OR56B1, INSC, FIBIN, C11orf96, SLC22A10, SPDYC, LIPT2, VSTM5, OR52K1, OR52I1, OR51D1, OR52A5, OR51B6, OR51M1, OR51Q1, OR51I1, OR51I2, OR52D1, OR52H1, OR52N4, OR52N5, OR52N2, OR52E6, OR52E8, OR52E4, OR56A3, OR56A5, OR10A6, ACCSL, OR4X1, OR5D13, OR5D16, OR5W2, OR8H2, OR8H3, OR5T3, OR5T1, OR8K1, OR5M9, OR5M10, OR5M1, OR9G1, OR5AK2, OR5B2, OR5B12, OR5AN1, OR4D10, OR4D9, OR10V1, LRRC10B, GPR152, TRIM77, IZUMO1R, KDM4E, BSX, OR6X1, OR6M1, OR10G4, OR10G7, OR8B3, OR8A1, FAM180B, PCNX3, TRIM49D1, C11orf87, C11orf88, PATE2, PATE4, SNX19, OR51T1, OR51A4, OR51A2, IFITM10, OR4A47, SCGB1D4, MIRLET7A2, MIR100, MIR125B1, MIR130A, MIR139, MIR192, MIR194-2, MIR210, MIR34B, MIR34C, DDI1, BLID, KRTAP5-5, KRTAP5-2, KRTAP5-6, TMEM41B, KRTAP5-7, KRTAP5-11, CARD17, OR5B3, MIR326, CCDC73, BDNF-AS, MS4A13, HEPN1, TRIM64B, TRIM49C, UBTFL1, BTBD18, MS4A4E, PGA3, PGA4, CLDN25, RASSF10, LOC646522, TRIM64C, SNORA3B, LOC692247, MIR610, INS-IGF2, MUC5B, LOC728196, MS4A18, LOC729305, TRIM49D2, CSKMT, UQCC3, LOC100128088, C11orf91, ZNF705E, LOC100132686, PATE3, LOC100287837, BACE1-AS, MTRNR2L8, CCDC179, C11orf72, ARAP1-AS2, MIR210HG, CASP12, TPBGL, RBM14-RBM4, SAA2-SAA4, NDUFC2-KCTD14, FXYD6-FXYD2, LOC101928943, LOC101929473
See casesPathogenic
(Jul 14, 2015)
no assertion criteria provided
3.
GRCh37:
Chr11:230616-134938470
ACAT1, ACP2, ACRV1, ACTN3, ADM, GRK2, AP2A2, APLNR, ALDH3B1, ALDH3B2, AMPD3, APBB1, BIRC2, BIRC3, APLP2, APOA1, APOA4, APOC3, ARCN1, RHOG, ARHGAP1, PHOX2A, ARL2, ARNTL, ARRB1, ART1, ASCL2, ATM, FXYD2, BAD, BBS1, CCND1, BDNF, CXCR5, SERPING1, CAPN5, VPS51, MRPL49, ZNHIT2, MPPED2, MYRF, TMEM258, DAGLA, CALCA, CALCB, CAPN1, CARS, CASP1, CASP4, CASP5, CAT, CBL, SERPINH1, CCKBR, CD3D, CD3E, CD3G, CD5, CD6, MS4A1, MS4A3, CD44, CD59, CD81, CD151, CDKN1C, CFL1, CTSC, CHEK1, CHKA, CHRM1, CHRM4, TPP1, CLNS1A, CNGA4, CNTF, COPB1, COX8A, CPT1A, CRY2, CRYAB, CST6, CSTF3, CTNND1, CTSD, CTSW, DDB1, DDB2, DDX6, DDX10, DHCR7, DLAT, DLG2, DPAGT1, DRD2, DRD4, DUSP8, EEF1G, EIF4G2, ELF5, MARK2, CTTN, ESRRA, ETS1, EXT2, F2, FANCF, FAU, MS4A2, FDX1, FEN1, FGF3, FGF4, FKBP2, FLI1, FOLH1, FOLR1, FOLR2, FOLR3, FSHB, FTH1, FUT4, SLC37A4, LRRC32, GAS2, GIF, GNG3, GRIA4, GRIK4, GRM5, GSTP1, GTF2H1, GUCY1A2, H2AFX, HBB, HBD, HBE1, HBG1, HBG2, HMBS, SLC29A2, HPX, HRAS, HSPA8, HSPB2, DNAJC4, HTR3A, IGF2, IGHMBP2, IL10RA, IL18, ILK, INCENP, INS, INPPL1, IRF7, STT3A, CD82, KCNA4, KCNC1, KCNJ1, KCNJ5, KCNJ11, KCNQ1, KRTAP5-9, LDHA, LDHC, FADS1, FADS3, LMO1, LMO2, VWA5A, LRP4, LRP5, LSP1, LTBP3, CAPRIN1, MAP6, MCAM, MDK, MEN1, SCGB2A1, SCGB2A2, MAP3K11, KMT2A, MMP1, MMP3, MMP7, MMP8, MMP10, MMP12, MMP13, MRE11, MTNR1B, MUC2, MUC5AC, MUC6, MYBPC3, MYO7A, MYOD1, NAP1L4, NCAM1, NDUFC2, NDUFS3, NDUFV1, NDUFS8, NELL1, NFRKB, NNMT, NPAT, NRGN, NUCB2, NUMA1, NUP98, OMP, OPCML, SLC22A18, SLC22A18AS, OSBP, OVOL1, P2RX3, P2RY2, P2RY6, PAFAH1B2, PAK1, PAX6, PC, PDE2A, PDE3B, PGA5, PGR, PIK3C2A, PLCB3, POLR2G, POLR2L, POU2AF1, PPP1CA, PPP2R1B, PPP2R5B, PRCP, PRG2, THAP12, PSMA1, PSMC3, PSMD13, PTH, PTPRCAP, PTPRJ, PTS, NECTIN1, PYGM, RAB3IL1, RAB6A, MAP4K2, RAD9A, RAG1, RAG2, RAPSN, RARRES3, RBM4, RCN1, RDX, RELA, DPF2, RNH1, SNORD15A, ROM1, MRPL23, RPL27A, RPLP2, RPS3, RPS6KB2, RPS13, RPS25, RRM1, SAA1, SAA2, SAA4, SC5D, SCN2B, SCN4B, SCT, SDHD, ST3GAL4, SIPA1, SLC1A2, SLC3A2, SLN, SMPD1, SORL1, SPI1, SPTBN2, SRPRA, TRIM21, SSRP1, ST5, ST14, STIM1, STX3, STX5, ABCC8, TAGLN, TAF10, TALDO1, TCN1, TEAD1, TECTA, TH, THRSP, THY1, TSPAN4, TM7SF2, TNNI2, TNNT3, TPH1, TRAF6, TRPC6, TSG101, PHLDA2, TUB, TYR, UCP2, UCP3, SCGB1A1, UPK2, UVRAG, VEGFB, BEST1, WEE1, WNT11, WT1, SF1, ZFPL1, ZNF143, ZBTB16, ZNF195, ZNF202, ZNF214, ZNF215, RASSF7, CSRP3, PDHX, FOSL1, CUL5, PICALM, FZD4, BBOX1, PPFIBP2, PPFIA1, SLC43A1, IFITM1, DGKZ, CHST1, BARX2, API5, MADD, OR6A2, DCHS1, EIF3F, JRKL, CTSF, EED, FADD, BANF1, ZPR1, MTMR2, RPS6KA4, BRSK2, AIP, SYT7, SART1, USP2, SLC6A5, FIBP, PCSK7, HTR3B, ZW10, MTA2, UBE2L6, SNORD29, SNORD31, SNORD30, SNORD28, SNORD27, SNORD26, SNORD25, SNORD22, MMP20, UBE4A, SLC22A6, SLC22A8, NRXN2, LPXN, PEX16, FADS2, MED17, MAPK8IP1, TP53I11, EI24, PITPNM1, RIN1, TESMIN, FEZ1, MICAL2, CTR9, CEP57, ARHGAP32, ATG13, SPCS2, CKAP5, ARHGEF17, GAB2, C2CD2L, TRIM66, FCHSD2, FGF19, CCS, RCE1, NAALAD2, NAALADL1, KCNE3, NR1H3, IL18BP, DPP3, TSPAN32, TSSC4, USH1C, KCNK7, HIPK3, RBM7, PRMT3, MPZL2, RASGRP2, GLYAT, CDK2AP2, TCIRG1, RTN3, MRVI1, TRIM22, PRG3, IFITM3, YAP1, SPON1, RBM14, CDC42EP2, EIF3M, NXF1, DEAF1, KAT5, HYOU1, IPO7, SSSCA1, HTATIP2, IFITM2, DRAP1, TRIM3, TAF6L, ATP5MG, SCGB1D2, SCGB1D1, CELF1, POLD3, OR5I1, STARD10, NEU3, ME3, GPR83, LYVE1, YIF1A, SRSF8, EHD1, C11orf58, STIP1, CLP1, KCNQ1OT1, SF3B2, CCDC85B, B4GAT1, ADAMTS8, PRSS23, PLA2G16, TREH, PKP3, HPS5, PTGDR2, SLCO2B1, RRAS2, CEP164, ZP1, SHANK2, KDM2A, IGSF9B, ENDOD1, SWAP70, EXPH5, ATG2A, PHLDB1, GANAB, FAM168A, DTX4, SIK2, DENND5A, NUP160, NCAPD3, FNBP4, ARHGEF12, RRP8, SIK3, SIRT3, CLCF1, OR52A1, VSIG2, BACE1, FAM89B, SNHG1, ARFIP2, POLA2, TRIM29, RAB38, CADM1, FLRT1, MTCH2, PANX1, FJX1, KIAA1549L, PRDX5, POU2F3, ABTB2, BRMS1, CATSPERZ, CHRDL2, PAMR1, ANAPC15, ZDHHC5, ATL3, TSKU, HINFP, REXO2, C2CD3, TKFC, TENM4, B3GAT3, FBXO3, SERGEF, EHF, OR5L2, PPP1R14B, OR8G2P, OR8B8, OR8G1, OR10A3, TIMM10B, TIMM10, TIMM8B, MYEOV, BSCL2, OR8B2, ELP4, CHORDC1, ACAD8, B3GAT1, DKK3, RBMXL2, RAB30, PGAP2, PRPF19, DCPS, C11orf54, AAMDC, MACROD1, SLC43A3, ZBTB44, THYN1, COMMD9, DDX25, C11orf21, PACSIN3, TRPM5, SAC3D1, SNX15, RHOD, EFEMP2, NOX4, UBQLN3, KCNK4, RNF141, NTM, CDON, UBXN1, APIP, TMX2, GAL, SIDT2, KMT5B, HSD17B12, IGF2-AS, TMEM216, CEND1, COA4, SLC15A3, PHF21A, MS4A4A, WT1-AS, TRAPPC4, PPME1, CABP2, HIKESHI, CWC15, TRMT112, TMEM138, PCF11, MRPL48, CYB5R2, RSF1, SPA17, FXYD6, C11orf24, TRIM34, CDHR5, CNTN5, SIAE, TOLLIP, C11orf71, ZDHHC13, ROBO4, WDR74, SLC35F2, RAB39A, TRIM44, BTG4, NXPE4, SYTL2, ANKRD49, MS4A12, MRPL16, SDHAF2, SSH3, TTC12, TMEM132A, HRASLS2, LAMTOR1, USP47, VPS37C, ANO1, TRIM68, NADSYN1, FAM86C1, NKAPD1, NAT10, CCDC87, PPP6R3, UEVLD, RNF121, LIN7C, ACER3, SLC35C1, TCP11L1, LGR4, PIDD1, ELMOD1, KCNQ1DN, SOX6, CDC42BPG, FOXRED1, OTUB1, AMBRA1, PACS1, KDM4D, KBTBD4, PARVA, TTC17, SCN3B, VPS11, TMEM126B, SLC22A11, TEX12, CRTAM, MMP26, TMPRSS4, AKIP1, C11orf16, TMEM9B, NRIP3, ASCL3, GPR137, IFT46, SMCO4, EMSY, PRDM10, PRDM11, CABP4, CHRNA10, SLC17A6, TRIM49, PNPLA2, CD248, CORO1B, SCYL1, DSCAML1, GRAMD1B, USP35, CEP126, ARHGAP20, CARNS1, SYT13, USP28, PHRF1, LRRC4C, SCUBE2, POLD4, KRTAP5-8, PLEKHB1, MS4A7, ZBED5, CREBZF, CARD18, SIGIRR, CCDC90B, CCDC81, AASDHPPT, ALX4, MRPL17, PKNOX2, FAM111A, TP53AIP1, ANO3, MMP27, ABCG4, ROBO3, MS4A6A, MS4A5, C11orf1, EPS8L2, KLC2, TUT1, MRPL11, TMEM135, STK33, KCTD14, C11orf95, CHID1, LRFN4, AHNAK, ALG8, PRRG4, TMEM223, TMEM109, CCDC86, LBHD1, C11orf49, TRIM48, TAF1D, RNF26, OR51G1, OR51B4, OR51B2, OR52N1, FAM118B, RIC3, DYNC2H1, NLRX1, MSANTD2, C11orf80, NARS2, E2F8, SLC25A22, CCDC82, ALG9, ZNF408, CLMP, NAA40, QSER1, AGBL2, ZBTB3, PDZD3, JHY, CPSF7, PRR5L, CCDC15, ASRGL1, PGGHG, MOGAT2, TMEM134, MUS81, PAAF1, PDGFD, INTS5, ZFP91, TMPRSS5, OR8J3, OR51G2, OR51E2, OR4P4, OR4C15, OR4A5, OR4A16, OR4A15, OR10W1, PTDSS2, MOB2, GDPD5, CLPB, UNC93B1, SBF2, RAB1B, KIF18A, PUS3, MFRP, C11orf68, MS4A8, JAM3, FERMT3, TRPT1, RBM4B, FRMD8, BCO2, TMEM133, TMPRSS13, FAM160A2, RNASEH2C, FAR1, TMEM126A, DCUN1D5, BTBD10, EIF1AD, NUDT22, ARFGAP2, MSANTD4, MAML2, SYVN1, KIRREL3, DGAT2, ACCS, MS4A14, TRIM51, BUD13, TMEM25, PTPN5, RPUSD4, TBRG1, MICALCL, RELT, UBASH3B, C11orf70, LGALS12, TRIM5, TNKS1BP1, DIXDC1, CEP295, ZC3H12C, GAL3ST3, NAV2, ATG16L2, GLB1L2, SYT8, TSPAN18, ESAM, CREB3L1, AP5B1, CCDC34, SLC39A13, DEPDC7, SYT12, ACY3, ALKBH8, FDXACB1, C11orf52, INTS4, GLYATL1, CAVIN3, VPS26B, GLB1L3, CDCA5, SAAL1, SLC22A9, TIRAP, CARD16, OSBPL5, C1QTNF4, C1QTNF5, TMEM123, PTPMT1, LRRC56, BATF2, SLC22A12, PANX3, MRGPRD, APOA5, MRGPRE, MRGPRF, ART5, ARAP1, CATSPER1, MRGPRX2, MRGPRX3, MRGPRX4, HRASLS5, TRIM6, OR52E2, OR52J3, OR51L1, OR51A7, OR51S1, OR51F2, OR52R1, C11orf74, OR4C46, OR4X2, OR4B1, OR52M1, OR52K2, OR5P2, OR5P3, LARGE2, SLC36A4, FAT3, TRIM64, TMEM45B, CYP2R1, DBX1, COLCA2, PIH1D2, NXPE1, NXPE2, JAML, DNAJC24, ARL14EP, OR8I2, OR2D3, OR2D2, OR52W1, OR56A4, OR56A1, SYT9, LDLRAD3, OR52B4, C11orf40, OR52I2, OR51E1, XRRA1, UBQLNL, MUC15, C11orf94, FAM76B, SESN3, PIWIL4, ARHGAP42, KBTBD3, CWF19L2, KDELC2, LAYN, TTC36, SPINDOC, PLEKHA7, SPTY2D1, TMEM86A, OR10A5, OR2AG1, DNHD1, AMOTL1, SLC5A12, DEUP1, PATE1, C11orf65, LDHAL6A, C11orf42, GPHA2, ADAMTS15, NLRP6, B3GNT6, METTL15, MPZL3, IMMP1L, OR56B4, ANO5, OR8U1, OR4C16, OR4C11, OR4S2, OR4C6, OR5D14, OR5L1, OR5D18, OR5AS1, OR8K5, OR5T2, OR8H1, OR8K3, OR8J1, OR5R1, OR5M3, OR5M8, OR5M11, OR5AR1, LRRC55, SMTNL1, YPEL4, MED19, FOLH1B, C11orf45, HYLS1, TMEM218, SLC37A2, OR8B12, OR8G5, OR10G8, OR10G9, OR10S1, OR6T1, OR4D5, TBCEL, TMEM136, MRPL21, TPCN2, SPATA19, OR6Q1, OR9I1, OR9Q1, OR9Q2, OR1S2, OR1S1, OR10Q1, OR5B17, OR5B21, GLYATL2, MPEG1, OR5A2, OR5A1, OR4D6, OR4D11, PATL1, OOSP2, MS4A15, VWCE, CYB561A3, PPP1R32, GDPD4, DDIAS, CCDC83, ORAOV1, LRTOMT, HEPACAM, OAF, TIGD3, FAM181B, CCDC89, LRRN4CL, HNRNPUL2, ALKBH3, MS4A6E, DEFB108B, PELI3, ANGPTL5, EHBP1L1, SNX32, TSGA10IP, RNF169, CNIH2, ZDHHC24, C11orf86, NUDT8, ANKK1, OR52B2, OR4C3, OR4S1, LMNTD2, EML3, TMEM151A, OR51F1, RNF214, SVIP, MRGPRX1, NPAS4, SELENOH, AQP11, OR51B5, OR10AG1, OR5J2, OR4C13, OR4C12, CSNK2A3, OR51V1, TRIM49B, H19, MAJIN, SLC25A45, NEAT1, BCL9L, FOXR1, CCDC153, OR8D1, OR8D2, OR8B4, C11orf44, OR9G4, P4HA3, PGM2L1, KLHL35, KCTD21, CRACR2B, TMEM80, CCDC88B, TTC9C, SLC22A24, RCOR2, HARBI1, LINC00294, IGSF22, OR10A4, OLFML1, NLRP10, NLRP14, ANO9, LUZP2, CCDC84, TMEM225, OR8D4, OR5F1, OR5AP2, ANKRD13D, ANKRD42, B4GALNT4, OR52L1, OR2AG2, OR52B6, OTOG, DCDC1, C11orf53, MS4A10, OR2AT4, HEPHL1, OR10A2, OVCH2, TBX10, GATD1, PLET1, RTN4RL2, GALNT18, NCR3LG1, FAM111B, TMEM179B, TBC1D10C, DNAJB13, MALAT1, MRGPRG, KRTAP5-1, KRTAP5-3, KRTAP5-4, KRTAP5-10, SLC22A25, IFITM5, OR56B1, INSC, FIBIN, C11orf96, SLC22A10, SPDYC, LIPT2, VSTM5, OR52K1, OR52I1, OR51D1, OR52A5, OR51B6, OR51M1, OR51Q1, OR51I1, OR51I2, OR52D1, OR52H1, OR52N4, OR52N5, OR52N2, OR52E6, OR52E8, OR52E4, OR56A3, OR56A5, OR10A6, ACCSL, OR4X1, OR5D13, OR5D16, OR5W2, OR8H2, OR8H3, OR5T3, OR5T1, OR8K1, OR5M9, OR5M10, OR5M1, OR9G1, OR5AK2, OR5B2, OR5B12, OR5AN1, OR4D10, OR4D9, OR10V1, LRRC10B, GPR152, TRIM77, IZUMO1R, KDM4E, BSX, OR6X1, OR6M1, OR10G4, OR10G7, OR8B3, OR8A1, FAM180B, PCNX3, TRIM49D1, C11orf87, C11orf88, PATE2, PATE4, SNX19, OR51T1, OR51A4, OR51A2, IFITM10, OR4A47, SCGB1D4, MIRLET7A2, MIR100, MIR125B1, MIR130A, MIR139, MIR192, MIR194-2, MIR210, MIR34B, MIR34C, DDI1, BLID, KRTAP5-5, KRTAP5-2, KRTAP5-6, TMEM41B, KRTAP5-7, KRTAP5-11, CARD17, OR5B3, MIR326, CCDC73, BDNF-AS, MS4A13, HEPN1, TRIM64B, TRIM49C, UBTFL1, BTBD18, MS4A4E, PGA3, PGA4, CLDN25, RASSF10, LOC646522, TRIM64C, SNORA3B, LOC692247, MIR610, INS-IGF2, MUC5B, LOC728196, MS4A18, LOC729305, TRIM49D2, CSKMT, UQCC3, LOC100128088, C11orf91, ZNF705E, LOC100132686, PATE3, LOC100287837, BACE1-AS, MTRNR2L8, CCDC179, C11orf72, ARAP1-AS2, MIR210HG, CASP12, TPBGL, RBM14-RBM4, SAA2-SAA4, NDUFC2-KCTD14, FXYD6-FXYD2, LOC101928943, LOC101929473
See casesPathogenic
(Dec 2, 2014)
no assertion criteria provided
4.
GRCh37:
Chr11:69633602
GRCh38:
Chr11:69818834
FGF3not specifiedUncertain significance
(Apr 6, 2017)
criteria provided, single submitter
5.
GRCh37:
Chr11:69631142
GRCh38:
Chr11:69816374
FGF3Deafness with labyrinthine aplasia microtia and microdontia (LAMM)Pathogenic
(Sep 7, 2016)
no assertion criteria provided
6.
GRCh37:
Chr11:69582976-69660482
FGF3, FGF4See casesLikely benignno assertion criteria provided
7.
GRCh37:
Chr11:68686958-69803426
CCND1, FGF3, FGF4, IGHMBP2, FGF19, MYEOV, MRGPRD, MRGPRF, TPCN2, ORAOV1See casesUncertain significanceno assertion criteria provided
8.
GRCh37:
Chr11:69633633
GRCh38:
Chr11:69818865
FGF3not specifiedBenign
(Feb 26, 2016)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr11:69625373
GRCh38:
Chr11:69810605
FGF3not specifiedLikely benigncriteria provided, single submitter
10.
GRCh37:
Chr11:69625385
GRCh38:
Chr11:69810617
FGF3not specifiedBenigncriteria provided, single submitter
11.
GRCh37:
Chr11:69625473
GRCh38:
Chr11:69810705
FGF3not specifiedBenigncriteria provided, single submitter
12.
GRCh37:
Chr11:67799160-71304541
GRCh38:
Chr11:68031693-71593495
See casesLikely pathogenic
(Jul 18, 2014)
no assertion criteria provided
13.
GRCh37:
Chr11:69625399
GRCh38:
Chr11:69810631
FGF3Deafness with labyrinthine aplasia microtia and microdontia (LAMM)Pathogenic
(Sep 20, 2012)
no assertion criteria provided
14.
GRCh37:
Chr11:69631129
GRCh38:
Chr11:69816361
FGF3Deafness with labyrinthine aplasia microtia and microdontia (LAMM), not providedPathogenic
(Feb 7, 2017)
criteria provided, single submitter
15.
GRCh37:
Chr11:69633552
GRCh38:
Chr11:69818784
FGF3Deafness with labyrinthine aplasia microtia and microdontia (LAMM)Pathogenic
(Sep 20, 2012)
no assertion criteria provided
16.
GRCh37:
Chr11:69625335-69625336
GRCh38:
Chr11:69810567-69810568
FGF3Deafness with labyrinthine aplasia microtia and microdontia (LAMM)Pathogenic
(Sep 20, 2012)
no assertion criteria provided
17.
GRCh37:
Chr11:69631095
GRCh38:
Chr11:69816327
FGF3Deafness with labyrinthine aplasia microtia and microdontia (LAMM)Pathogenic
(Sep 20, 2012)
no assertion criteria provided
18.
GRCh37:
Chr11:69633556
GRCh38:
Chr11:69818788
FGF3Deafness with labyrinthine aplasia microtia and microdontia (LAMM)Pathogenic
(Sep 20, 2012)
no assertion criteria provided
19.
GRCh37:
Chr11:69631157
GRCh38:
Chr11:69816389
FGF3Deafness with labyrinthine aplasia microtia and microdontia (LAMM)Pathogenic
(Sep 20, 2012)
no assertion criteria provided
20.
GRCh37:
Chr11:69633685
GRCh38:
Chr11:69818917
FGF3Deafness with labyrinthine aplasia microtia and microdontia (LAMM)Pathogenic
(Sep 20, 2012)
no assertion criteria provided
21.
GRCh37:
Chr11:69633506
GRCh38:
Chr11:69818738
FGF3Deafness with labyrinthine aplasia microtia and microdontia (LAMM)Pathogenic
(Sep 20, 2012)
no assertion criteria provided
22.
GRCh37:
Chr11:69625177
GRCh38:
Chr11:69810409
FGF3Deafness with labyrinthine aplasia microtia and microdontia (LAMM)Pathogenic
(Sep 20, 2012)
no assertion criteria provided
23.
GRCh37:
Chr11:69631102
GRCh38:
Chr11:69816334
FGF3Deafness with labyrinthine aplasia microtia and microdontia (LAMM)Pathogenic
(Sep 20, 2012)
no assertion criteria provided
24.
GRCh37:
Chr11:69625327
GRCh38:
Chr11:69810559
FGF3Deafness with labyrinthine aplasia microtia and microdontia (LAMM)Pathogenic
(Sep 20, 2012)
no assertion criteria provided
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